Chromatin remodeling in the noncoding repeat expansion diseases.
Friedreich ataxia, myotonic dystrophy type 1 and 3 forms of intellectual disability, fragile X syndrome, FRAXE mental retardation, and FRA12A mental retardation are repeat expansion diseases caused by expansion of CTG.CAG, GAA.TTC, or CGG.CCG repeat tracts. These repeats are transcribed but not translated. They are located in different parts of different genes and cause symptoms that range from ataxia and hypertrophic cardiomyopathy to muscle wasting, male infertility, and mental retardation, yet recent reports suggest that, despite these differences, the repeats may share a common property, namely the ability to initiate repeat-mediated epigenetic changes that result in heterochromatin formation.
Kumari
Daman
D
Section on Gene Structure and Disease, Laboratory of Molecular and Cellular Biology, NIDDK, National Institutes of Health, Bethesda, Maryland 20892-0830, USA.
Usdin
Karen
K
D000818:Animals; D042002:Chromatin Assembly and Disassembly / Q000235:genetics*; D044127:Epigenesis, Genetic; D005260:Female; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006570:Heterochromatin / Q000235:genetics*; D006801:Humans; D008297:Male; D014158:Transcription, Genetic / Q000235:genetics; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
D006570:Heterochromatin